Other Names

Diagnosis Coding

Disorder Category

An organic acidemia

Screening

Finding

Elevated C4 (butyrylcarnitine)

Tested By

Tandem mass spectrometry (MS/MS); sensitivity=NA; specificity=NA

Overview

Deficiency of Isobutyryl-CoA dehydrogenase causes inability to break down the amino acid valine in protein and resulting accumulation
of organic acids. The disorder is very rare and the long term consequences of this condition are unclear.

Incidence

Inheritance

Autosomal recessive

Prenatal Testing

DNA testing or enzyme analysis by amniocentesis or CVS

Clinical Characteristics

With treatment, improvement in growth and normal development can be expected. Treatment consists in canitine supplementation to prevent deficiency.
Without treatment, outcomes are unknown because of the very few observed cases. Symptoms were reported to start at one year of age and may be
triggered by fasting and illness. Most patients identified by newborn screening have remained asymptomatic.

Genetics in Primary Care Institute (AAP)The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes
health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services
Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.